Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

• Autores: Mata, Ignacio F; Wilhoite, Greggory J; Yearout, Dora; Bacon, Justin A; Cornejo-Olivas, Mario; Mazzetti, Pilar; Marca, Victoria; Ortega, Olimpio; Acosta, Oscar; Cosentino, Carlos; Torres, Luis; Medina, Angel C; Perez-Pastene, Carolina; Díaz-Grez, Fernando; Vilariño-Güell, Carles; Venegas, Pablo; Miranda, Marcelo; Trujillo-Godoy, Osvaldo; Layson, Luis; Avello, Rodrigo; Dieguez, Elena; Raggio, Victor; Micheli, Federico E; Perandones, Claudia; Alvarez, Victoria; Segura-Aguilar, Juan; Farrer, Matthew J; Zabetian, Cyrus P; Ross, Owen A
• Año de publicación: 2011
• Idioma: inglés
• Tipo de recurso: artículo
• Fuente: Parkinsonism & Related Disorders 2011;17(8):629–631
• Materia: Enfermedad de Parkinson; América Latina; Mutación
• Institución: Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"

Fil: Mata, Ignacio F. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos.
Fil: Wilhoite, Greggory J. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Yearout, Dora. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Bacon, Justin A. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Cornejo-Olivas, Mario. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Mazzetti, Pilar. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Marca, Victoria. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Ortega, Olimpio. Universidad Nacional Mayor de San Marcos. School of Medicine, Lima; Perú.
Fil: Acosta, Oscar. Instituto Nacional de Ciencias Neurológicas. Movement disorders, Lima; Perú.
Fil: Cosentino, Carlos. Instituto Nacional de Ciencias Neurológicas. Movement disorders, Lima; Perú.
Fil: Torres, Luis. Universidad Nacional del Altiplano, Puno; Perú.
Fil: Medina, Angel C. University of Chile. Faculty of Medicine. ICBM. Molecular and Clinical Pharmacology, Santiago; Chile.
Fil: Perez-Pastene, Carolina. University of Chile. Faculty of Medicine. ICBM. Molecular and Clinical Pharmacology, Santiago; Chile.
Fil: Díaz-Grez, Fernando. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Vilariño-Güell, Carles. Liga del Parkinson de Chile; Chile.
Fil: Venegas, Pablo. Liga del Parkinson de Chile; Chile.
Fil: Miranda, Marcelo. Liga del Parkinson de Chile; Chile.
Fil: Trujillo-Godoy, Osvaldo. Hospital Barros Luco Trudeau; Chile.
Fil: Layson, Luis. Hospital Barros Luco Trudeau; Chile.
Fil: Avello, Rodrigo. Hospital Regional de Concepción; Chile.
Fil: Dieguez, Elena. Universidad de la República. Facultad de Medicina. Departamento de Neurología, Montevideo; Uruguay.
Fil: Raggio, Victor. Universidad de la República. Facultad de Medicina. Departamento de Genética, Montevideo; Uruguay.
Fil: Micheli, Federico E. ANLIS Dr.C.G.Malbrán; Argentina.
Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Dirección Científico Técnica; Argentina.
Fil: Alvarez, Victoria. Hospital Universitario Central de Asturias. Instituto de Investigación Nefrológica (IRSINFRIAT). Laboratorio de Genética Molecular, Oviedo; España.
Fil: Segura-Aguilar, Juan. Instituto Nacional de Ciencias Neurológicas. Unidad de Neurogenética, Lima; Perú.
Fil: Farrer, Matthew J. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Fil: Zabetian, Cyrus P. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos.
Fil: Ross, Owen A. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.
Mutations in the LRRK2 gene are the most common genetic cause of Parkinson's disease, with frequencies displaying a high degree of population-specificity. Although more than 100 coding substitutions have been identified, only seven have been proven to be highly penetrant pathogenic mutations. Studies however are lacking in non-white populations. Recently, Lrrk2 p.Q1111H (rs78365431) was identified in two affected Hispanic brothers and absent in 386 non-Hispanic white healthy controls. We therefore screened this variant in 1460 individuals (1150 PD patients and 310 healthy controls) from 4 Latin American countries (Peru, Chile, Uruguay and Argentina). In our case-control series from Peru and Chile we observed an increased frequency of Lrrk2 p.Q1111H in patients (7.9%) compared to controls (5.4%) although the difference did not reach significance (OR 1.38; p = 0.10). In addition, the frequency of Lrrk2 p.Q1111H varied greatly between populations and further screening in a set of pure Amerindian and pure Spanish controls suggested that this variant likely originated in an Amerindian population. Further studies in other Latin American populations are warranted to assess its role as a risk factor for Parkinson's disease. Screening in Parkinson's disease patients from under-represented populations will increase our understanding of the role of LRRK2 variants in disease risk worldwide.